TITLE

No genetic association of the Ubiquitin Carboxy-terminal Hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease

AUTHOR(S)
Levecque, C.; Destée, A.; Mouroux, V.; Becquet, E.; Defebvre, L.; Amouyel, P.; Chartier-Harlin, M.-C.
PUB. DATE
September 2001
SOURCE
Journal of Neural Transmission;Sep2001, Vol. 108 Issue 8/9, p979
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Summary. Parkinson's disease (PD) is a neurodegenerative disorder for which genetic susceptibility has been documented in sporadic and familial cases. Recently, a polymorphism located in exon 3 at codon 18 (S18Y) of the Ubiquitin Carboxy-terminal Hydrolase-L1 (UCH-L1) gene has been associated with the disease in 2 populations of German origin and also in a Japanese population. We tested the impact of this polymorphism in a French sample of familial PD patients (n = 114) and controls (n = 93). No association was observed, indicating that this polymorphism did not confer susceptibility for familial PD in our population, even among the youngest age of onset group. This observation suggests that the previous positive results obtained may reflect mechanisms restricted to the sporadic form of the disease or to a founder effect of the disease susceptibility.
ACCESSION #
15394870

 

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